Inborn Errors of Metabolism and the Gastrointestinal Tract.

Affiliation

Admera Health, 126 Corporate Boulevard, South Plainfield, NJ 07080, USA. Electronic address: [Email]

Abstract

Inborn errors of metabolism (IEMs) are usually recognized by characteristic neurologic and metabolic manifestations and sometimes by dysmorphism. However, IEMs can present with a wide variety of gastrointestinal manifestations, whether as the primary or a minor clinical symptom. Regardless, gastrointestinal and hepatic manifestations of IEMs are important clinical features that can help identify an underlying defect; these disorders should be taken into consideration as part of a patient's clinical assessment. It is prudent to include metabolic disorders in the differential diagnosis because in some cases, gastrointestinal symptoms may be the only presenting feature in a patient with an underlying IEM.

Keywords

Disorder,Error,Gastrointestinal,Hepatic,Inborn,Manifestations,Metabolism,

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